Canonical Allele Identifier: CA345918
Gene: MT-ND5 HGNC NCBI

Linked Data

ClinVar Variation Id: 155889
ClinVar RCV Id: RCV000144017 RCV002260618 RCV003333959
dbSNP Id: rs587776440
MyVariant Identifiers: chrMT:g.13514A>G (hg38)
ERepo: CA345918/MONDO:0044970/014
PubMed: PMID:14684687 PMID:15576045 PMID:20301352
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Genomic Alleles

HGVS Genome Assembly
NC_012920.1:m.13514A>G , J01415.2:m.13514A>G GRCh38

Transcript Alleles

HGVS Amino-acid Change
ENST00000361567.2:c.1178A>G ENSP00000354813.2:p.Asp393Gly
Search 100 bp 5'
Search 100 bp 3'